Variant report

Variant	rs57650888
Chromosome Location	chr2:111888585-111888586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17041876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17041885	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17041887	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17041889	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17041892	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1975369	1.00[AMR][1000 genomes]
rs41309780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58152388	1.00[AMR][1000 genomes]
rs61016769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv963952	chr2:111883259-111893062	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111890800	Weak transcription	Right Ventricle	heart
2	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:111881200-111909600	Weak transcription	NHLF	lung
6	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:111881400-111891000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:111881600-111888600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:111881600-111889800	Strong transcription	K562	blood
10	chr2:111881600-111893000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:111881600-111893200	Weak transcription	Fetal Brain Female	brain
12	chr2:111881600-111897200	Weak transcription	Stomach Mucosa	stomach
13	chr2:111881600-111897400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:111881800-111889800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:111881800-111893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:111881800-111893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:111881800-111893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:111881800-111894400	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:111881800-111900800	Weak transcription	Fetal Brain Male	brain
22	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:111882400-111888600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:111883000-111893200	Weak transcription	NH-A	brain
27	chr2:111883000-111893400	Weak transcription	Brain Anterior Caudate	brain
28	chr2:111883200-111894800	Weak transcription	NHEK	skin
29	chr2:111883400-111889400	Weak transcription	Pancreas	Pancrea
30	chr2:111883400-111890000	Strong transcription	Fetal Thymus	thymus
31	chr2:111883400-111890600	Weak transcription	GM12878-XiMat	blood
32	chr2:111883400-111890800	Weak transcription	Psoas Muscle	Psoas
33	chr2:111883400-111892800	Weak transcription	Fetal Stomach	stomach
34	chr2:111883400-111893000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:111883400-111893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:111883400-111893000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:111883400-111893000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:111883400-111893000	Weak transcription	Brain Substantia Nigra	brain
39	chr2:111883400-111893000	Weak transcription	Esophagus	oesophagus
40	chr2:111883400-111893200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:111883400-111893400	Weak transcription	Spleen	Spleen
42	chr2:111883400-111907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:111883400-111909400	Weak transcription	Aorta	Aorta
44	chr2:111883400-111912600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:111883600-111896200	Weak transcription	Gastric	stomach
46	chr2:111883600-111909400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:111883600-111909600	Weak transcription	Small Intestine	intestine
48	chr2:111883800-111890400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:111883800-111890800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:111883800-111891200	Weak transcription	Primary hematopoietic stem cells	blood

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